U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Reduced hepatic glycogen debrancher enzyme activity

MedGen UID:
1841976
•Concept ID:
C5826797
•
Finding
HPO: HP:0034957

Definition

Activity of glycogen debrancher enzyme (also known as amylo-1,6-glucosydase, 4-alpha-glucantransferase) in liver tissue below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced hepatic glycogen debrancher enzyme activity

Recent clinical studies

Etiology

Inhibition of glycogen phosphorylase in the context of type 2 diabetes, with focus on recent inhibitors bound at the active site.
Praly JP, Vidal S
Mini Rev Med Chem 2010 Oct;10(12):1102-26. doi: 10.2174/1389557511009011102. PMID: 20716051
Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit.
Mundy HR, Williams JE, Lee PJ, Fewtrell MS
J Inherit Metab Dis 2008 Jun;31(3):418-23. Epub 2008 Apr 4 doi: 10.1007/s10545-008-0830-0. PMID: 18392743

Diagnosis

Amylo-1,6-glucosidase activity in cultured cells: a deficiency in type III glycogenosis with prenatal studies.
Besley GT, Cohen PT, Faed MJ, Wolstenholme J
Prenat Diagn 1983 Jan;3(1):13-9. doi: 10.1002/pd.1970030104. PMID: 6221240

Therapy

Inhibition of glycogen phosphorylase in the context of type 2 diabetes, with focus on recent inhibitors bound at the active site.
Praly JP, Vidal S
Mini Rev Med Chem 2010 Oct;10(12):1102-26. doi: 10.2174/1389557511009011102. PMID: 20716051
Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit.
Mundy HR, Williams JE, Lee PJ, Fewtrell MS
J Inherit Metab Dis 2008 Jun;31(3):418-23. Epub 2008 Apr 4 doi: 10.1007/s10545-008-0830-0. PMID: 18392743

Prognosis

Amylo-1,6-glucosidase activity in cultured cells: a deficiency in type III glycogenosis with prenatal studies.
Besley GT, Cohen PT, Faed MJ, Wolstenholme J
Prenat Diagn 1983 Jan;3(1):13-9. doi: 10.1002/pd.1970030104. PMID: 6221240

Clinical prediction guides

Amylo-1,6-glucosidase activity in cultured cells: a deficiency in type III glycogenosis with prenatal studies.
Besley GT, Cohen PT, Faed MJ, Wolstenholme J
Prenat Diagn 1983 Jan;3(1):13-9. doi: 10.1002/pd.1970030104. PMID: 6221240

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...